Phenotypes Associated with This Genotype

Genotype
MGI:2387143

• Allelic Composition: Kitl^Sl/Kitl^Sl
• Genetic Background: involves: C3H

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:3399 )

• no presumed homozygotes are born; homozygotes begin to die at ~E15-15.5 from anemia

• an occasional mutant survives until birth

nervous system

spina bifida ( J:3399 )

• 4/330 embryos aged E14.5-17.5 displayed spina bifida

abnormal brain development ( J:3399 )

• at E10.5-12.5, small number of embryos, presumably homozygous, have brain abnormalities, including a collapsed brain, pseudoencephaly or a narrowed brain region

• from E14.5-17.5, some embryos show abnormal brain development (3/330) as described in younger embryos

myelencephalic blebs ( J:3399 )

• one E17.5 embryo displayed a bleb near the midline in the cervical region

hematopoietic system

anemia ( J:3399 )

• starting around E13.5 and peaking at E14.5, presumed homozygotes display anemia recognized by overall paleness of the embryos

cardiovascular system

abnormal blood circulation ( J:3399 )

• in affected (anemic) animals, individual clumps or red blood cells can be seen in umbilical vessels; in controls, vessels are uniformly red with normal blood flow

reproductive system

infertility ( J:5547 )

• mice carrying two mutant alleles are sterile

pigmentation

absent skin pigmentation ( J:28098 )

• transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair

embryo

spina bifida ( J:3399 )

• 4/330 embryos aged E14.5-17.5 displayed spina bifida

integument

pallor ( J:3399 )

• characteristic of anemic embryos

absent skin pigmentation ( J:28098 )

• transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair